D11V (p.Asp11Val) variant of GNAS (P63092)
D11V (p.Asp11Val) in GNAS (P63092) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data and structural context.
D11V (p.Asp11Val) variant details
- p.Asp11Val
- cosmic curated COSV10810
- Missense
- Variant Prioritization Score for Impact Estimate 0.513
- REVEL 0.55
- CADD 20.70
- PolyPhen-2 0.01
- SIFT 0.02
- Population evidence available
- Structural context available